AustralieFrV1, Main, Exploration, bibRecord, 000766

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Identifieur interne : 000766 ( Main/Exploration ); précédent : 000765; suivant : 000767

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Auteurs : Daniela A. Braun [États-Unis] ; Jia Rao [États-Unis] ; Geraldine Mollet [France] ; David Schapiro [États-Unis] ; Marie-Claire Daugeron [France] ; Weizhen Tan [États-Unis] ; Olivier Gribouval [France] ; Olivia Boyer [France] ; Patrick Revy [France] ; Tilman Jobst-Schwan [États-Unis] ; Johanna Magdalena Schmidt [États-Unis] ; Jennifer A. Lawson [États-Unis] ; Denny Schanze [Allemagne] ; Shazia Ashraf [États-Unis] ; Jeremy F P. Ullmann [États-Unis] ; Charlotte A. Hoogstraten [États-Unis] ; Nathalie Boddaert [France] ; Bruno Collinet [France] ; Gaëlle Martin [France] ; Dominique Liger [France] ; Svjetlana Lovric [États-Unis] ; Monica Furlano [France] ; I Chiara Guerrera [France] ; Oraly Sanchez-Ferras [Canada] ; Jennifer F. Hu [États-Unis] ; Anne-Claire Boschat [France] ; Sylvia Sanquer [France] ; Björn Menten [Belgique] ; Sarah Vergult [Belgique] ; Nina De Rocker [Belgique] ; Merlin Airik [États-Unis] ; Tobias Hermle [États-Unis] ; Shirlee Shril [États-Unis] ; Eugen Widmeier [États-Unis] ; Heon Yung Gee [États-Unis] ; Won-Il Choi [États-Unis] ; Carolin E. Sadowski [États-Unis] ; Werner L. Pabst [États-Unis] ; Jillian K. Warejko [États-Unis] ; Ankana Daga [États-Unis] ; Tamara Basta [France] ; Verena Matejas [Allemagne] ; Karin Scharmann [Allemagne] ; Sandra D. Kienast [Allemagne] ; Babak Behnam [Iran] ; Brendan Beeson [Australie] ; Amber Begtrup [États-Unis] ; Malcolm Bruce [Australie] ; Gaik-Siew Ch'Ng [Malaisie] ; Shuan-Pei Lin [Taïwan] ; Jui-Hsing Chang [Taïwan] ; Chao-Huei Chen [Taïwan] ; Megan T. Cho [États-Unis] ; Patrick M. Gaffney [États-Unis] ; Patrick E. Gipson [États-Unis] ; Chyong-Hsin Hsu [Taïwan] ; Jameela A. Kari [Arabie saoudite] ; Yu-Yuan Ke [Taïwan] ; Cathy Kiraly-Borri [Australie] ; Wai-Ming Lai [République populaire de Chine] ; Emmanuelle Lemyre [Canada] ; Rebecca Okashah Littlejohn [États-Unis] ; Amira Masri [Jordanie] ; Mastaneh Moghtaderi [Iran] ; Kazuyuki Nakamura [Japon] ; Fatih Ozaltin [Turquie] ; Marleen Praet [Belgique] ; Chitra Prasad [Canada] ; Agnieszka Prytula [Belgique] ; Elizabeth R. Roeder [États-Unis] ; Patrick Rump [Pays-Bas] ; Rhonda E. Schnur [États-Unis] ; Takashi Shiihara [Japon] ; Manish D. Sinha [Royaume-Uni] ; Neveen A. Soliman [Égypte] ; Kenza Soulami [Maroc] ; David A. Sweetser [États-Unis] ; Wen-Hui Tsai [Taïwan] ; Jeng-Daw Tsai [Taïwan] ; Rezan Topaloglu [Turquie] ; Udo Vester [Allemagne] ; David H. Viskochil [États-Unis] ; Nithiwat Vatanavicharn [Thaïlande] ; Jessica L. Waxler [États-Unis] ; Klaas J. Wierenga [États-Unis] ; Matthias T F. Wolf [États-Unis] ; Sik-Nin Wong [République populaire de Chine] ; Sebastian A. Leidel [Allemagne] ; Gessica Truglio [États-Unis] ; Peter C. Dedon [États-Unis] ; Annapurna Poduri [États-Unis] ; Shrikant Mane [États-Unis] ; Richard P. Lifton [États-Unis] ; Maxime Bouchard [Canada] ; Peter Kannu [Canada] ; David Chitayat [Canada] ; Daniella Magen [Israël] ; Bert Callewaert [Belgique] ; Herman Van Tilbeurgh [France] ; Martin Zenker [Allemagne] ; Corinne Antignac [France] ; Friedhelm Hildebrandt [États-Unis]

Source :

Nature genetics [ 1546-1718 ] ; 2017.

RBID : pubmed:28805828

Descripteurs français

English descriptors

KwdEn :
- Animals, Apoptosis (genetics), CRISPR-Cas Systems, Carrier Proteins (genetics), Cell Movement, Cytoskeleton (ultrastructure), DNA Repair (genetics), Endoplasmic Reticulum Stress (genetics), Gene Knockout Techniques, Hernia, Hiatal (genetics), Humans, Intracellular Signaling Peptides and Proteins (deficiency), Intracellular Signaling Peptides and Proteins (genetics), Metalloendopeptidases (deficiency), Metalloendopeptidases (genetics), Mice, Microcephaly (genetics), Models, Molecular, Multiprotein Complexes (genetics), Mutation, Nephrosis (genetics), Nephrotic Syndrome (genetics), Nephrotic Syndrome (pathology), Podocytes (metabolism), Podocytes (ultrastructure), Protein Conformation, Protein-Serine-Threonine Kinases (deficiency), Protein-Serine-Threonine Kinases (genetics), RNA Processing, Post-Transcriptional (genetics), RNA, Transfer (metabolism), Telomere Homeostasis (genetics), Zebrafish, Zebrafish Proteins (deficiency), Zebrafish Proteins (genetics).
MESH :
- chemical , deficiency : Intracellular Signaling Peptides and Proteins, Metalloendopeptidases, Protein-Serine-Threonine Kinases, Zebrafish Proteins.
- chemical , genetics : Carrier Proteins, Intracellular Signaling Peptides and Proteins, Metalloendopeptidases, Multiprotein Complexes, Protein-Serine-Threonine Kinases, Zebrafish Proteins.
- genetics : Apoptosis, DNA Repair, Endoplasmic Reticulum Stress, Hernia, Hiatal, Microcephaly, Nephrosis, Nephrotic Syndrome, RNA Processing, Post-Transcriptional, Telomere Homeostasis.
- metabolism : Podocytes, RNA, Transfer.
- pathology : Nephrotic Syndrome.
- ultrastructure : Cytoskeleton, Podocytes.
- Animals, CRISPR-Cas Systems, Cell Movement, Gene Knockout Techniques, Humans, Mice, Models, Molecular, Mutation, Protein Conformation, Zebrafish.

Abstract

Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.

DOI: 10.1038/ng.3933
PubMed: 28805828

Affiliations:

Allemagne, Arabie saoudite, Australie, Belgique, Canada, France, Iran, Israël, Japon, Jordanie, Malaisie, Maroc, Pays-Bas, Royaume-Uni, République populaire de Chine, Taïwan, Thaïlande, Turquie, Égypte, États-Unis
Angleterre, Bavière, Connecticut, District de Moyenne-Franconie, Grand Londres, Groningue (province), Maryland, Massachusetts, Michigan, Oklahoma, Ontario, Québec, Saxe-Anhalt, Texas, Utah, Île-de-France
Erlangen, Gif-sur-Yvette, Groningue, Londres, Magdebourg, Montréal, Orsay, Paris, Toronto
Université McGill, Université Paris-Sud, Université de Toronto

Le document en format XML

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<author><name sortKey="Hoogstraten, Charlotte A" sort="Hoogstraten, Charlotte A" uniqKey="Hoogstraten C" first="Charlotte A" last="Hoogstraten">Charlotte A. Hoogstraten</name>
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<author><name sortKey="Furlano, Monica" sort="Furlano, Monica" uniqKey="Furlano M" first="Monica" last="Furlano">Monica Furlano</name>
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<author><name sortKey="Guerrera, I Chiara" sort="Guerrera, I Chiara" uniqKey="Guerrera I" first="I Chiara" last="Guerrera">I Chiara Guerrera</name>
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<author><name sortKey="Sanchez Ferras, Oraly" sort="Sanchez Ferras, Oraly" uniqKey="Sanchez Ferras O" first="Oraly" last="Sanchez-Ferras">Oraly Sanchez-Ferras</name>
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<author><name sortKey="Hu, Jennifer F" sort="Hu, Jennifer F" uniqKey="Hu J" first="Jennifer F" last="Hu">Jennifer F. Hu</name>
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<author><name sortKey="Boschat, Anne Claire" sort="Boschat, Anne Claire" uniqKey="Boschat A" first="Anne-Claire" last="Boschat">Anne-Claire Boschat</name>
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<author><name sortKey="Sanquer, Sylvia" sort="Sanquer, Sylvia" uniqKey="Sanquer S" first="Sylvia" last="Sanquer">Sylvia Sanquer</name>
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</author>
<author><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vergult, Sarah" sort="Vergult, Sarah" uniqKey="Vergult S" first="Sarah" last="Vergult">Sarah Vergult</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Rocker, Nina" sort="De Rocker, Nina" uniqKey="De Rocker N" first="Nina" last="De Rocker">Nina De Rocker</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Airik, Merlin" sort="Airik, Merlin" uniqKey="Airik M" first="Merlin" last="Airik">Merlin Airik</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hermle, Tobias" sort="Hermle, Tobias" uniqKey="Hermle T" first="Tobias" last="Hermle">Tobias Hermle</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shril, Shirlee" sort="Shril, Shirlee" uniqKey="Shril S" first="Shirlee" last="Shril">Shirlee Shril</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Widmeier, Eugen" sort="Widmeier, Eugen" uniqKey="Widmeier E" first="Eugen" last="Widmeier">Eugen Widmeier</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Choi, Won Il" sort="Choi, Won Il" uniqKey="Choi W" first="Won-Il" last="Choi">Won-Il Choi</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sadowski, Carolin E" sort="Sadowski, Carolin E" uniqKey="Sadowski C" first="Carolin E" last="Sadowski">Carolin E. Sadowski</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pabst, Werner L" sort="Pabst, Werner L" uniqKey="Pabst W" first="Werner L" last="Pabst">Werner L. Pabst</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Warejko, Jillian K" sort="Warejko, Jillian K" uniqKey="Warejko J" first="Jillian K" last="Warejko">Jillian K. Warejko</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Daga, Ankana" sort="Daga, Ankana" uniqKey="Daga A" first="Ankana" last="Daga">Ankana Daga</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Basta, Tamara" sort="Basta, Tamara" uniqKey="Basta T" first="Tamara" last="Basta">Tamara Basta</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Matejas, Verena" sort="Matejas, Verena" uniqKey="Matejas V" first="Verena" last="Matejas">Verena Matejas</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea>
<placeName><settlement type="city">Erlangen</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Moyenne-Franconie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scharmann, Karin" sort="Scharmann, Karin" uniqKey="Scharmann K" first="Karin" last="Scharmann">Karin Scharmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Max Planck Institute for Molecular Biomedicine, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Biomedicine, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kienast, Sandra D" sort="Kienast, Sandra D" uniqKey="Kienast S" first="Sandra D" last="Kienast">Sandra D. Kienast</name>
<affiliation wicri:level="1"><nlm:affiliation>Max Planck Institute for Molecular Biomedicine, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Biomedicine, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Behnam, Babak" sort="Behnam, Babak" uniqKey="Behnam B" first="Babak" last="Behnam">Babak Behnam</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences (IUMS), Tehran, Iran.</nlm:affiliation>
<country xml:lang="fr">Iran</country>
<wicri:regionArea>Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences (IUMS), Tehran</wicri:regionArea>
<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Beeson, Brendan" sort="Beeson, Brendan" uniqKey="Beeson B" first="Brendan" last="Beeson">Brendan Beeson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name>
<affiliation wicri:level="2"><nlm:affiliation>GeneDx, Gaithersburg, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bruce, Malcolm" sort="Bruce, Malcolm" uniqKey="Bruce M" first="Malcolm" last="Bruce">Malcolm Bruce</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ch Ng, Gaik Siew" sort="Ch Ng, Gaik Siew" uniqKey="Ch Ng G" first="Gaik-Siew" last="Ch'Ng">Gaik-Siew Ch'Ng</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.</nlm:affiliation>
<country xml:lang="fr">Malaisie</country>
<wicri:regionArea>Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur</wicri:regionArea>
<wicri:noRegion>Kuala Lumpur</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lin, Shuan Pei" sort="Lin, Shuan Pei" uniqKey="Lin S" first="Shuan-Pei" last="Lin">Shuan-Pei Lin</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Genetics, MacKay Children's Hospital, Taipei, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatric Genetics, MacKay Children's Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chang, Jui Hsing" sort="Chang, Jui Hsing" uniqKey="Chang J" first="Jui-Hsing" last="Chang">Jui-Hsing Chang</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, MacKay Children's Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chen, Chao Huei" sort="Chen, Chao Huei" uniqKey="Chen C" first="Chao-Huei" last="Chen">Chao-Huei Chen</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, Taichung Veterans General Hospital, Taichung</wicri:regionArea>
<wicri:noRegion>Taichung</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T" last="Cho">Megan T. Cho</name>
<affiliation wicri:level="2"><nlm:affiliation>GeneDx, Gaithersburg, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaffney, Patrick M" sort="Gaffney, Patrick M" uniqKey="Gaffney P" first="Patrick M" last="Gaffney">Patrick M. Gaffney</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gipson, Patrick E" sort="Gipson, Patrick E" uniqKey="Gipson P" first="Patrick E" last="Gipson">Patrick E. Gipson</name>
<affiliation wicri:level="2"><nlm:affiliation>Internal Medicine and Pediatrics Divisions of Adult and Pediatric Nephrology, University of Michigan, Ann Arbor, Michigan, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Internal Medicine and Pediatrics Divisions of Adult and Pediatric Nephrology, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hsu, Chyong Hsin" sort="Hsu, Chyong Hsin" uniqKey="Hsu C" first="Chyong-Hsin" last="Hsu">Chyong-Hsin Hsu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, MacKay Children's Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kari, Jameela A" sort="Kari, Jameela A" uniqKey="Kari J" first="Jameela A" last="Kari">Jameela A. Kari</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah, Saudi Arabia.</nlm:affiliation>
<country xml:lang="fr">Arabie saoudite</country>
<wicri:regionArea>Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah</wicri:regionArea>
<wicri:noRegion>Jeddah</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ke, Yu Yuan" sort="Ke, Yu Yuan" uniqKey="Ke Y" first="Yu-Yuan" last="Ke">Yu-Yuan Ke</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, Taichung Veterans General Hospital, Taichung</wicri:regionArea>
<wicri:noRegion>Taichung</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lai, Wai Ming" sort="Lai, Wai Ming" uniqKey="Lai W" first="Wai-Ming" last="Lai">Wai-Ming Lai</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong</wicri:regionArea>
<wicri:noRegion>Hong Kong</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lemyre, Emmanuelle" sort="Lemyre, Emmanuelle" uniqKey="Lemyre E" first="Emmanuelle" last="Lemyre">Emmanuelle Lemyre</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Département de Pédiatrie, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Service de Génétique Médicale, Département de Pédiatrie, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea>
<wicri:noRegion>Québec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Littlejohn, Rebecca Okashah" sort="Littlejohn, Rebecca Okashah" uniqKey="Littlejohn R" first="Rebecca Okashah" last="Littlejohn">Rebecca Okashah Littlejohn</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Masri, Amira" sort="Masri, Amira" uniqKey="Masri A" first="Amira" last="Masri">Amira Masri</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman, Jordan.</nlm:affiliation>
<country xml:lang="fr">Jordanie</country>
<wicri:regionArea>Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman</wicri:regionArea>
<wicri:noRegion>Amman</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moghtaderi, Mastaneh" sort="Moghtaderi, Mastaneh" uniqKey="Moghtaderi M" first="Mastaneh" last="Moghtaderi">Mastaneh Moghtaderi</name>
<affiliation wicri:level="1"><nlm:affiliation>Chronic Kidney Disease Research Center, Tehran University of Medical Science, Tehran, Iran.</nlm:affiliation>
<country xml:lang="fr">Iran</country>
<wicri:regionArea>Chronic Kidney Disease Research Center, Tehran University of Medical Science, Tehran</wicri:regionArea>
<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nakamura, Kazuyuki" sort="Nakamura, Kazuyuki" uniqKey="Nakamura K" first="Kazuyuki" last="Nakamura">Kazuyuki Nakamura</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Yamagata University School of Medicine, Yamagata</wicri:regionArea>
<wicri:noRegion>Yamagata</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ozaltin, Fatih" sort="Ozaltin, Fatih" uniqKey="Ozaltin F" first="Fatih" last="Ozaltin">Fatih Ozaltin</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Praet, Marleen" sort="Praet, Marleen" uniqKey="Praet M" first="Marleen" last="Praet">Marleen Praet</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Pathology, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prasad, Chitra" sort="Prasad, Chitra" uniqKey="Prasad C" first="Chitra" last="Prasad">Chitra Prasad</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Metabolism and Pediatrics, Western University, London Health Sciences Centre, London, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Genetics, Metabolism and Pediatrics, Western University, London Health Sciences Centre, London, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prytula, Agnieszka" sort="Prytula, Agnieszka" uniqKey="Prytula A" first="Agnieszka" last="Prytula">Agnieszka Prytula</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Pediatrics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roeder, Elizabeth R" sort="Roeder, Elizabeth R" uniqKey="Roeder E" first="Elizabeth R" last="Roeder">Elizabeth R. Roeder</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rump, Patrick" sort="Rump, Patrick" uniqKey="Rump P" first="Patrick" last="Rump">Patrick Rump</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea>
<placeName><settlement type="city">Groningue</settlement>
<region nuts="2" type="province">Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schnur, Rhonda E" sort="Schnur, Rhonda E" uniqKey="Schnur R" first="Rhonda E" last="Schnur">Rhonda E. Schnur</name>
<affiliation wicri:level="2"><nlm:affiliation>GeneDx, Gaithersburg, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Yamagata University School of Medicine, Yamagata</wicri:regionArea>
<wicri:noRegion>Yamagata</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sinha, Manish D" sort="Sinha, Manish D" uniqKey="Sinha M" first="Manish D" last="Sinha">Manish D. Sinha</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Nephrology, Kings College London, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Nephrology, Kings College London, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Soliman, Neveen A" sort="Soliman, Neveen A" uniqKey="Soliman N" first="Neveen A" last="Soliman">Neveen A. Soliman</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Center of Pediatric Nephrology &Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.</nlm:affiliation>
<country xml:lang="fr">Égypte</country>
<wicri:regionArea>Department of Pediatrics, Center of Pediatric Nephrology &Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo</wicri:regionArea>
<wicri:noRegion>Cairo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Soulami, Kenza" sort="Soulami, Kenza" uniqKey="Soulami K" first="Kenza" last="Soulami">Kenza Soulami</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Nephrology, Ibn Rochd University Hospital, Casablanca, Morocco.</nlm:affiliation>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Department of Nephrology, Ibn Rochd University Hospital, Casablanca</wicri:regionArea>
<wicri:noRegion>Casablanca</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sweetser, David A" sort="Sweetser, David A" uniqKey="Sweetser D" first="David A" last="Sweetser">David A. Sweetser</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tsai, Wen Hui" sort="Tsai, Wen Hui" uniqKey="Tsai W" first="Wen-Hui" last="Tsai">Wen-Hui Tsai</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Metabolism, Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Division of Genetics and Metabolism, Department of Pediatrics, Chi Mei Medical Center, Tainan</wicri:regionArea>
<wicri:noRegion>Tainan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tsai, Jeng Daw" sort="Tsai, Jeng Daw" uniqKey="Tsai J" first="Jeng-Daw" last="Tsai">Jeng-Daw Tsai</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Medicine, MacKay Medical College, New Taipei City</wicri:regionArea>
<wicri:noRegion>New Taipei City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Topaloglu, Rezan" sort="Topaloglu, Rezan" uniqKey="Topaloglu R" first="Rezan" last="Topaloglu">Rezan Topaloglu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vester, Udo" sort="Vester, Udo" uniqKey="Vester U" first="Udo" last="Vester">Udo Vester</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics II, University Hospital Essen, Essen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics II, University Hospital Essen, Essen</wicri:regionArea>
<wicri:noRegion>Essen</wicri:noRegion>
<wicri:noRegion>Essen</wicri:noRegion>
<wicri:noRegion>Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Viskochil, David H" sort="Viskochil, David H" uniqKey="Viskochil D" first="David H" last="Viskochil">David H. Viskochil</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vatanavicharn, Nithiwat" sort="Vatanavicharn, Nithiwat" uniqKey="Vatanavicharn N" first="Nithiwat" last="Vatanavicharn">Nithiwat Vatanavicharn</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation>
<country xml:lang="fr">Thaïlande</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok</wicri:regionArea>
<wicri:noRegion>Bangkok</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Waxler, Jessica L" sort="Waxler, Jessica L" uniqKey="Waxler J" first="Jessica L" last="Waxler">Jessica L. Waxler</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wierenga, Klaas J" sort="Wierenga, Klaas J" uniqKey="Wierenga K" first="Klaas J" last="Wierenga">Klaas J. Wierenga</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, Oklahoma, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wolf, Matthias T F" sort="Wolf, Matthias T F" uniqKey="Wolf M" first="Matthias T F" last="Wolf">Matthias T F. Wolf</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Pediatric Nephrology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Pediatric Nephrology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wong, Sik Nin" sort="Wong, Sik Nin" uniqKey="Wong S" first="Sik-Nin" last="Wong">Sik-Nin Wong</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong</wicri:regionArea>
<wicri:noRegion>Hong Kong</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leidel, Sebastian A" sort="Leidel, Sebastian A" uniqKey="Leidel S" first="Sebastian A" last="Leidel">Sebastian A. Leidel</name>
<affiliation wicri:level="1"><nlm:affiliation>Max Planck Institute for Molecular Biomedicine, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Biomedicine, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Truglio, Gessica" sort="Truglio, Gessica" uniqKey="Truglio G" first="Gessica" last="Truglio">Gessica Truglio</name>
<affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dedon, Peter C" sort="Dedon, Peter C" uniqKey="Dedon P" first="Peter C" last="Dedon">Peter C. Dedon</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Poduri, Annapurna" sort="Poduri, Annapurna" uniqKey="Poduri A" first="Annapurna" last="Poduri">Annapurna Poduri</name>
<affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mane, Shrikant" sort="Mane, Shrikant" uniqKey="Mane S" first="Shrikant" last="Mane">Shrikant Mane</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lifton, Richard P" sort="Lifton, Richard P" uniqKey="Lifton R" first="Richard P" last="Lifton">Richard P. Lifton</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bouchard, Maxime" sort="Bouchard, Maxime" uniqKey="Bouchard M" first="Maxime" last="Bouchard">Maxime Bouchard</name>
<affiliation wicri:level="4"><nlm:affiliation>Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kannu, Peter" sort="Kannu, Peter" uniqKey="Kannu P" first="Peter" last="Kannu">Peter Kannu</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Magen, Daniella" sort="Magen, Daniella" uniqKey="Magen D" first="Daniella" last="Magen">Daniella Magen</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel.</nlm:affiliation>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa</wicri:regionArea>
<wicri:noRegion>Haifa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Callewaert, Bert" sort="Callewaert, Bert" uniqKey="Callewaert B" first="Bert" last="Callewaert">Bert Callewaert</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Tilbeurgh, Herman" sort="Van Tilbeurgh, Herman" uniqKey="Van Tilbeurgh H" first="Herman" last="Van Tilbeurgh">Herman Van Tilbeurgh</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital Magdeburg, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.</title>
<author><name sortKey="Braun, Daniela A" sort="Braun, Daniela A" uniqKey="Braun D" first="Daniela A" last="Braun">Daniela A. Braun</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rao, Jia" sort="Rao, Jia" uniqKey="Rao J" first="Jia" last="Rao">Jia Rao</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mollet, Geraldine" sort="Mollet, Geraldine" uniqKey="Mollet G" first="Geraldine" last="Mollet">Geraldine Mollet</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schapiro, David" sort="Schapiro, David" uniqKey="Schapiro D" first="David" last="Schapiro">David Schapiro</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Daugeron, Marie Claire" sort="Daugeron, Marie Claire" uniqKey="Daugeron M" first="Marie-Claire" last="Daugeron">Marie-Claire Daugeron</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Tan, Weizhen" sort="Tan, Weizhen" uniqKey="Tan W" first="Weizhen" last="Tan">Weizhen Tan</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gribouval, Olivier" sort="Gribouval, Olivier" uniqKey="Gribouval O" first="Olivier" last="Gribouval">Olivier Gribouval</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boyer, Olivia" sort="Boyer, Olivia" uniqKey="Boyer O" first="Olivia" last="Boyer">Olivia Boyer</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Revy, Patrick" sort="Revy, Patrick" uniqKey="Revy P" first="Patrick" last="Revy">Patrick Revy</name>
<affiliation wicri:level="3"><nlm:affiliation>Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jobst Schwan, Tilman" sort="Jobst Schwan, Tilman" uniqKey="Jobst Schwan T" first="Tilman" last="Jobst-Schwan">Tilman Jobst-Schwan</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schmidt, Johanna Magdalena" sort="Schmidt, Johanna Magdalena" uniqKey="Schmidt J" first="Johanna Magdalena" last="Schmidt">Johanna Magdalena Schmidt</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lawson, Jennifer A" sort="Lawson, Jennifer A" uniqKey="Lawson J" first="Jennifer A" last="Lawson">Jennifer A. Lawson</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schanze, Denny" sort="Schanze, Denny" uniqKey="Schanze D" first="Denny" last="Schanze">Denny Schanze</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital Magdeburg, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ashraf, Shazia" sort="Ashraf, Shazia" uniqKey="Ashraf S" first="Shazia" last="Ashraf">Shazia Ashraf</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ullmann, Jeremy F P" sort="Ullmann, Jeremy F P" uniqKey="Ullmann J" first="Jeremy F P" last="Ullmann">Jeremy F P. Ullmann</name>
<affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hoogstraten, Charlotte A" sort="Hoogstraten, Charlotte A" uniqKey="Hoogstraten C" first="Charlotte A" last="Hoogstraten">Charlotte A. Hoogstraten</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boddaert, Nathalie" sort="Boddaert, Nathalie" uniqKey="Boddaert N" first="Nathalie" last="Boddaert">Nathalie Boddaert</name>
<affiliation wicri:level="3"><nlm:affiliation>Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collinet, Bruno" sort="Collinet, Bruno" uniqKey="Collinet B" first="Bruno" last="Collinet">Bruno Collinet</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Martin, Gaelle" sort="Martin, Gaelle" uniqKey="Martin G" first="Gaëlle" last="Martin">Gaëlle Martin</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Liger, Dominique" sort="Liger, Dominique" uniqKey="Liger D" first="Dominique" last="Liger">Dominique Liger</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Lovric, Svjetlana" sort="Lovric, Svjetlana" uniqKey="Lovric S" first="Svjetlana" last="Lovric">Svjetlana Lovric</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Furlano, Monica" sort="Furlano, Monica" uniqKey="Furlano M" first="Monica" last="Furlano">Monica Furlano</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guerrera, I Chiara" sort="Guerrera, I Chiara" uniqKey="Guerrera I" first="I Chiara" last="Guerrera">I Chiara Guerrera</name>
<affiliation wicri:level="3"><nlm:affiliation>Proteomics platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Proteomics platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanchez Ferras, Oraly" sort="Sanchez Ferras, Oraly" uniqKey="Sanchez Ferras O" first="Oraly" last="Sanchez-Ferras">Oraly Sanchez-Ferras</name>
<affiliation wicri:level="4"><nlm:affiliation>Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hu, Jennifer F" sort="Hu, Jennifer F" uniqKey="Hu J" first="Jennifer F" last="Hu">Jennifer F. Hu</name>
<affiliation wicri:level="2"><nlm:affiliation>Departments of Chemistry and Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Chemistry and Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boschat, Anne Claire" sort="Boschat, Anne Claire" uniqKey="Boschat A" first="Anne-Claire" last="Boschat">Anne-Claire Boschat</name>
<affiliation wicri:level="3"><nlm:affiliation>Mass Spectrometry Platform, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Mass Spectrometry Platform, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sanquer, Sylvia" sort="Sanquer, Sylvia" uniqKey="Sanquer S" first="Sylvia" last="Sanquer">Sylvia Sanquer</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Metabolomic and Proteomic Biochemistry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Metabolomic and Proteomic Biochemistry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Menten, Bjorn" sort="Menten, Bjorn" uniqKey="Menten B" first="Björn" last="Menten">Björn Menten</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vergult, Sarah" sort="Vergult, Sarah" uniqKey="Vergult S" first="Sarah" last="Vergult">Sarah Vergult</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Rocker, Nina" sort="De Rocker, Nina" uniqKey="De Rocker N" first="Nina" last="De Rocker">Nina De Rocker</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Airik, Merlin" sort="Airik, Merlin" uniqKey="Airik M" first="Merlin" last="Airik">Merlin Airik</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hermle, Tobias" sort="Hermle, Tobias" uniqKey="Hermle T" first="Tobias" last="Hermle">Tobias Hermle</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shril, Shirlee" sort="Shril, Shirlee" uniqKey="Shril S" first="Shirlee" last="Shril">Shirlee Shril</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Widmeier, Eugen" sort="Widmeier, Eugen" uniqKey="Widmeier E" first="Eugen" last="Widmeier">Eugen Widmeier</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Choi, Won Il" sort="Choi, Won Il" uniqKey="Choi W" first="Won-Il" last="Choi">Won-Il Choi</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sadowski, Carolin E" sort="Sadowski, Carolin E" uniqKey="Sadowski C" first="Carolin E" last="Sadowski">Carolin E. Sadowski</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pabst, Werner L" sort="Pabst, Werner L" uniqKey="Pabst W" first="Werner L" last="Pabst">Werner L. Pabst</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Warejko, Jillian K" sort="Warejko, Jillian K" uniqKey="Warejko J" first="Jillian K" last="Warejko">Jillian K. Warejko</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Daga, Ankana" sort="Daga, Ankana" uniqKey="Daga A" first="Ankana" last="Daga">Ankana Daga</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Basta, Tamara" sort="Basta, Tamara" uniqKey="Basta T" first="Tamara" last="Basta">Tamara Basta</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Matejas, Verena" sort="Matejas, Verena" uniqKey="Matejas V" first="Verena" last="Matejas">Verena Matejas</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen</wicri:regionArea>
<placeName><settlement type="city">Erlangen</settlement>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Moyenne-Franconie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scharmann, Karin" sort="Scharmann, Karin" uniqKey="Scharmann K" first="Karin" last="Scharmann">Karin Scharmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Max Planck Institute for Molecular Biomedicine, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Biomedicine, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kienast, Sandra D" sort="Kienast, Sandra D" uniqKey="Kienast S" first="Sandra D" last="Kienast">Sandra D. Kienast</name>
<affiliation wicri:level="1"><nlm:affiliation>Max Planck Institute for Molecular Biomedicine, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Biomedicine, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Behnam, Babak" sort="Behnam, Babak" uniqKey="Behnam B" first="Babak" last="Behnam">Babak Behnam</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences (IUMS), Tehran, Iran.</nlm:affiliation>
<country xml:lang="fr">Iran</country>
<wicri:regionArea>Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences (IUMS), Tehran</wicri:regionArea>
<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Beeson, Brendan" sort="Beeson, Brendan" uniqKey="Beeson B" first="Brendan" last="Beeson">Brendan Beeson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name>
<affiliation wicri:level="2"><nlm:affiliation>GeneDx, Gaithersburg, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bruce, Malcolm" sort="Bruce, Malcolm" uniqKey="Bruce M" first="Malcolm" last="Bruce">Malcolm Bruce</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Diagnostic Imaging, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ch Ng, Gaik Siew" sort="Ch Ng, Gaik Siew" uniqKey="Ch Ng G" first="Gaik-Siew" last="Ch'Ng">Gaik-Siew Ch'Ng</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.</nlm:affiliation>
<country xml:lang="fr">Malaisie</country>
<wicri:regionArea>Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur</wicri:regionArea>
<wicri:noRegion>Kuala Lumpur</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lin, Shuan Pei" sort="Lin, Shuan Pei" uniqKey="Lin S" first="Shuan-Pei" last="Lin">Shuan-Pei Lin</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Genetics, MacKay Children's Hospital, Taipei, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatric Genetics, MacKay Children's Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chang, Jui Hsing" sort="Chang, Jui Hsing" uniqKey="Chang J" first="Jui-Hsing" last="Chang">Jui-Hsing Chang</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, MacKay Children's Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chen, Chao Huei" sort="Chen, Chao Huei" uniqKey="Chen C" first="Chao-Huei" last="Chen">Chao-Huei Chen</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, Taichung Veterans General Hospital, Taichung</wicri:regionArea>
<wicri:noRegion>Taichung</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T" last="Cho">Megan T. Cho</name>
<affiliation wicri:level="2"><nlm:affiliation>GeneDx, Gaithersburg, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaffney, Patrick M" sort="Gaffney, Patrick M" uniqKey="Gaffney P" first="Patrick M" last="Gaffney">Patrick M. Gaffney</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gipson, Patrick E" sort="Gipson, Patrick E" uniqKey="Gipson P" first="Patrick E" last="Gipson">Patrick E. Gipson</name>
<affiliation wicri:level="2"><nlm:affiliation>Internal Medicine and Pediatrics Divisions of Adult and Pediatric Nephrology, University of Michigan, Ann Arbor, Michigan, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Internal Medicine and Pediatrics Divisions of Adult and Pediatric Nephrology, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hsu, Chyong Hsin" sort="Hsu, Chyong Hsin" uniqKey="Hsu C" first="Chyong-Hsin" last="Hsu">Chyong-Hsin Hsu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, MacKay Children's Hospital, Taipei, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, MacKay Children's Hospital, Taipei</wicri:regionArea>
<wicri:noRegion>Taipei</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kari, Jameela A" sort="Kari, Jameela A" uniqKey="Kari J" first="Jameela A" last="Kari">Jameela A. Kari</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah, Saudi Arabia.</nlm:affiliation>
<country xml:lang="fr">Arabie saoudite</country>
<wicri:regionArea>Pediatric Nephrology Center of Excellence and Pediatric Department, King Abdulaziz University, Jeddah</wicri:regionArea>
<wicri:noRegion>Jeddah</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ke, Yu Yuan" sort="Ke, Yu Yuan" uniqKey="Ke Y" first="Yu-Yuan" last="Ke">Yu-Yuan Ke</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Pediatrics, Taichung Veterans General Hospital, Taichung</wicri:regionArea>
<wicri:noRegion>Taichung</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name>
<affiliation wicri:level="1"><nlm:affiliation>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lai, Wai Ming" sort="Lai, Wai Ming" uniqKey="Lai W" first="Wai-Ming" last="Lai">Wai-Ming Lai</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong</wicri:regionArea>
<wicri:noRegion>Hong Kong</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lemyre, Emmanuelle" sort="Lemyre, Emmanuelle" uniqKey="Lemyre E" first="Emmanuelle" last="Lemyre">Emmanuelle Lemyre</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, Département de Pédiatrie, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Service de Génétique Médicale, Département de Pédiatrie, CHU Sainte-Justine, Université de Montréal, Montréal, Québec</wicri:regionArea>
<wicri:noRegion>Québec</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Littlejohn, Rebecca Okashah" sort="Littlejohn, Rebecca Okashah" uniqKey="Littlejohn R" first="Rebecca Okashah" last="Littlejohn">Rebecca Okashah Littlejohn</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Masri, Amira" sort="Masri, Amira" uniqKey="Masri A" first="Amira" last="Masri">Amira Masri</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman, Jordan.</nlm:affiliation>
<country xml:lang="fr">Jordanie</country>
<wicri:regionArea>Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, University of Jordan, Amman</wicri:regionArea>
<wicri:noRegion>Amman</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moghtaderi, Mastaneh" sort="Moghtaderi, Mastaneh" uniqKey="Moghtaderi M" first="Mastaneh" last="Moghtaderi">Mastaneh Moghtaderi</name>
<affiliation wicri:level="1"><nlm:affiliation>Chronic Kidney Disease Research Center, Tehran University of Medical Science, Tehran, Iran.</nlm:affiliation>
<country xml:lang="fr">Iran</country>
<wicri:regionArea>Chronic Kidney Disease Research Center, Tehran University of Medical Science, Tehran</wicri:regionArea>
<wicri:noRegion>Tehran</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nakamura, Kazuyuki" sort="Nakamura, Kazuyuki" uniqKey="Nakamura K" first="Kazuyuki" last="Nakamura">Kazuyuki Nakamura</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Yamagata University School of Medicine, Yamagata</wicri:regionArea>
<wicri:noRegion>Yamagata</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ozaltin, Fatih" sort="Ozaltin, Fatih" uniqKey="Ozaltin F" first="Fatih" last="Ozaltin">Fatih Ozaltin</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Praet, Marleen" sort="Praet, Marleen" uniqKey="Praet M" first="Marleen" last="Praet">Marleen Praet</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Pathology, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prasad, Chitra" sort="Prasad, Chitra" uniqKey="Prasad C" first="Chitra" last="Prasad">Chitra Prasad</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Genetics, Metabolism and Pediatrics, Western University, London Health Sciences Centre, London, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Genetics, Metabolism and Pediatrics, Western University, London Health Sciences Centre, London, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prytula, Agnieszka" sort="Prytula, Agnieszka" uniqKey="Prytula A" first="Agnieszka" last="Prytula">Agnieszka Prytula</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Pediatrics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roeder, Elizabeth R" sort="Roeder, Elizabeth R" uniqKey="Roeder E" first="Elizabeth R" last="Roeder">Elizabeth R. Roeder</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, San Antonio, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rump, Patrick" sort="Rump, Patrick" uniqKey="Rump P" first="Patrick" last="Rump">Patrick Rump</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.</nlm:affiliation>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea>
<placeName><settlement type="city">Groningue</settlement>
<region nuts="2" type="province">Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schnur, Rhonda E" sort="Schnur, Rhonda E" uniqKey="Schnur R" first="Rhonda E" last="Schnur">Rhonda E. Schnur</name>
<affiliation wicri:level="2"><nlm:affiliation>GeneDx, Gaithersburg, Maryland, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Shiihara, Takashi" sort="Shiihara, Takashi" uniqKey="Shiihara T" first="Takashi" last="Shiihara">Takashi Shiihara</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Yamagata University School of Medicine, Yamagata</wicri:regionArea>
<wicri:noRegion>Yamagata</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sinha, Manish D" sort="Sinha, Manish D" uniqKey="Sinha M" first="Manish D" last="Sinha">Manish D. Sinha</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Paediatric Nephrology, Kings College London, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Nephrology, Kings College London, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Soliman, Neveen A" sort="Soliman, Neveen A" uniqKey="Soliman N" first="Neveen A" last="Soliman">Neveen A. Soliman</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Center of Pediatric Nephrology &Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.</nlm:affiliation>
<country xml:lang="fr">Égypte</country>
<wicri:regionArea>Department of Pediatrics, Center of Pediatric Nephrology &Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo</wicri:regionArea>
<wicri:noRegion>Cairo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Soulami, Kenza" sort="Soulami, Kenza" uniqKey="Soulami K" first="Kenza" last="Soulami">Kenza Soulami</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Nephrology, Ibn Rochd University Hospital, Casablanca, Morocco.</nlm:affiliation>
<country xml:lang="fr">Maroc</country>
<wicri:regionArea>Department of Nephrology, Ibn Rochd University Hospital, Casablanca</wicri:regionArea>
<wicri:noRegion>Casablanca</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sweetser, David A" sort="Sweetser, David A" uniqKey="Sweetser D" first="David A" last="Sweetser">David A. Sweetser</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tsai, Wen Hui" sort="Tsai, Wen Hui" uniqKey="Tsai W" first="Wen-Hui" last="Tsai">Wen-Hui Tsai</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Genetics and Metabolism, Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Division of Genetics and Metabolism, Department of Pediatrics, Chi Mei Medical Center, Tainan</wicri:regionArea>
<wicri:noRegion>Tainan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tsai, Jeng Daw" sort="Tsai, Jeng Daw" uniqKey="Tsai J" first="Jeng-Daw" last="Tsai">Jeng-Daw Tsai</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.</nlm:affiliation>
<country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Department of Medicine, MacKay Medical College, New Taipei City</wicri:regionArea>
<wicri:noRegion>New Taipei City</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Topaloglu, Rezan" sort="Topaloglu, Rezan" uniqKey="Topaloglu R" first="Rezan" last="Topaloglu">Rezan Topaloglu</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara, Turkey.</nlm:affiliation>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Hacettepe University, Ankara</wicri:regionArea>
<wicri:noRegion>Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vester, Udo" sort="Vester, Udo" uniqKey="Vester U" first="Udo" last="Vester">Udo Vester</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics II, University Hospital Essen, Essen, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics II, University Hospital Essen, Essen</wicri:regionArea>
<wicri:noRegion>Essen</wicri:noRegion>
<wicri:noRegion>Essen</wicri:noRegion>
<wicri:noRegion>Essen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Viskochil, David H" sort="Viskochil, David H" uniqKey="Viskochil D" first="David H" last="Viskochil">David H. Viskochil</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vatanavicharn, Nithiwat" sort="Vatanavicharn, Nithiwat" uniqKey="Vatanavicharn N" first="Nithiwat" last="Vatanavicharn">Nithiwat Vatanavicharn</name>
<affiliation wicri:level="1"><nlm:affiliation>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.</nlm:affiliation>
<country xml:lang="fr">Thaïlande</country>
<wicri:regionArea>Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok</wicri:regionArea>
<wicri:noRegion>Bangkok</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Waxler, Jessica L" sort="Waxler, Jessica L" uniqKey="Waxler J" first="Jessica L" last="Waxler">Jessica L. Waxler</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wierenga, Klaas J" sort="Wierenga, Klaas J" uniqKey="Wierenga K" first="Klaas J" last="Wierenga">Klaas J. Wierenga</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, Oklahoma, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, Oklahoma</wicri:regionArea>
<placeName><region type="state">Oklahoma</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wolf, Matthias T F" sort="Wolf, Matthias T F" uniqKey="Wolf M" first="Matthias T F" last="Wolf">Matthias T F. Wolf</name>
<affiliation wicri:level="2"><nlm:affiliation>Division of Pediatric Nephrology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Pediatric Nephrology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wong, Sik Nin" sort="Wong, Sik Nin" uniqKey="Wong S" first="Sik-Nin" last="Wong">Sik-Nin Wong</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Pediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong</wicri:regionArea>
<wicri:noRegion>Hong Kong</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leidel, Sebastian A" sort="Leidel, Sebastian A" uniqKey="Leidel S" first="Sebastian A" last="Leidel">Sebastian A. Leidel</name>
<affiliation wicri:level="1"><nlm:affiliation>Max Planck Institute for Molecular Biomedicine, Muenster, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max Planck Institute for Molecular Biomedicine, Muenster</wicri:regionArea>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
<wicri:noRegion>Muenster</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Truglio, Gessica" sort="Truglio, Gessica" uniqKey="Truglio G" first="Gessica" last="Truglio">Gessica Truglio</name>
<affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dedon, Peter C" sort="Dedon, Peter C" uniqKey="Dedon P" first="Peter C" last="Dedon">Peter C. Dedon</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Poduri, Annapurna" sort="Poduri, Annapurna" uniqKey="Poduri A" first="Annapurna" last="Poduri">Annapurna Poduri</name>
<affiliation wicri:level="2"><nlm:affiliation>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Epilepsy Genetics Program and F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mane, Shrikant" sort="Mane, Shrikant" uniqKey="Mane S" first="Shrikant" last="Mane">Shrikant Mane</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lifton, Richard P" sort="Lifton, Richard P" uniqKey="Lifton R" first="Richard P" last="Lifton">Richard P. Lifton</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, Yale University School of Medicine, New Haven, Connecticut</wicri:regionArea>
<placeName><region type="state">Connecticut</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bouchard, Maxime" sort="Bouchard, Maxime" uniqKey="Bouchard M" first="Maxime" last="Bouchard">Maxime Bouchard</name>
<affiliation wicri:level="4"><nlm:affiliation>Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Goodman Cancer Research Centre and Department of Biochemistry, McGill University, Montreal, Quebec</wicri:regionArea>
<orgName type="university">Université McGill</orgName>
<placeName><settlement type="city">Montréal</settlement>
<region type="state">Québec</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kannu, Peter" sort="Kannu, Peter" uniqKey="Kannu P" first="Peter" last="Kannu">Peter Kannu</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Magen, Daniella" sort="Magen, Daniella" uniqKey="Magen D" first="Daniella" last="Magen">Daniella Magen</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa, Israel.</nlm:affiliation>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa</wicri:regionArea>
<wicri:noRegion>Haifa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Callewaert, Bert" sort="Callewaert, Bert" uniqKey="Callewaert B" first="Bert" last="Callewaert">Bert Callewaert</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea>
<wicri:noRegion>Ghent</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Tilbeurgh, Herman" sort="Van Tilbeurgh, Herman" uniqKey="Van Tilbeurgh H" first="Herman" last="Van Tilbeurgh">Herman Van Tilbeurgh</name>
<affiliation wicri:level="4"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Gif-sur-Yvette</settlement>
<settlement type="city">Orsay</settlement>
</placeName>
<orgName type="university">Université Paris-Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name>
<affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University Hospital Magdeburg, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature genetics</title>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>Apoptosis (genetics)</term>
<term>CRISPR-Cas Systems</term>
<term>Carrier Proteins (genetics)</term>
<term>Cell Movement</term>
<term>Cytoskeleton (ultrastructure)</term>
<term>DNA Repair (genetics)</term>
<term>Endoplasmic Reticulum Stress (genetics)</term>
<term>Gene Knockout Techniques</term>
<term>Hernia, Hiatal (genetics)</term>
<term>Humans</term>
<term>Intracellular Signaling Peptides and Proteins (deficiency)</term>
<term>Intracellular Signaling Peptides and Proteins (genetics)</term>
<term>Metalloendopeptidases (deficiency)</term>
<term>Metalloendopeptidases (genetics)</term>
<term>Mice</term>
<term>Microcephaly (genetics)</term>
<term>Models, Molecular</term>
<term>Multiprotein Complexes (genetics)</term>
<term>Mutation</term>
<term>Nephrosis (genetics)</term>
<term>Nephrotic Syndrome (genetics)</term>
<term>Nephrotic Syndrome (pathology)</term>
<term>Podocytes (metabolism)</term>
<term>Podocytes (ultrastructure)</term>
<term>Protein Conformation</term>
<term>Protein-Serine-Threonine Kinases (deficiency)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>RNA Processing, Post-Transcriptional (genetics)</term>
<term>RNA, Transfer (metabolism)</term>
<term>Telomere Homeostasis (genetics)</term>
<term>Zebrafish</term>
<term>Zebrafish Proteins (deficiency)</term>
<term>Zebrafish Proteins (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>ARN de transfert (métabolisme)</term>
<term>Animaux</term>
<term>Apoptose (génétique)</term>
<term>Complexes multiprotéiques (génétique)</term>
<term>Conformation des protéines</term>
<term>Cytosquelette (ultrastructure)</term>
<term>Danio zébré</term>
<term>Hernie hiatale (génétique)</term>
<term>Homéostasie des télomères (génétique)</term>
<term>Humains</term>
<term>Maturation post-transcriptionnelle des ARN (génétique)</term>
<term>Metalloendopeptidases (déficit)</term>
<term>Metalloendopeptidases (génétique)</term>
<term>Microcéphalie (génétique)</term>
<term>Modèles moléculaires</term>
<term>Mouvement cellulaire</term>
<term>Mutation</term>
<term>Néphrose (génétique)</term>
<term>Podocytes (métabolisme)</term>
<term>Podocytes (ultrastructure)</term>
<term>Protein-Serine-Threonine Kinases (déficit)</term>
<term>Protein-Serine-Threonine Kinases (génétique)</term>
<term>Protéines de poisson-zèbre (déficit)</term>
<term>Protéines de poisson-zèbre (génétique)</term>
<term>Protéines de transport (génétique)</term>
<term>Protéines et peptides de signalisation intracellulaire (déficit)</term>
<term>Protéines et peptides de signalisation intracellulaire (génétique)</term>
<term>Réparation de l'ADN (génétique)</term>
<term>Souris</term>
<term>Stress du réticulum endoplasmique (génétique)</term>
<term>Syndrome néphrotique (anatomopathologie)</term>
<term>Syndrome néphrotique (génétique)</term>
<term>Systèmes CRISPR-Cas</term>
<term>Techniques de knock-out de gènes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term>
<term>Metalloendopeptidases</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Zebrafish Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Carrier Proteins</term>
<term>Intracellular Signaling Peptides and Proteins</term>
<term>Metalloendopeptidases</term>
<term>Multiprotein Complexes</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Zebrafish Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Syndrome néphrotique</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Metalloendopeptidases</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Protéines de poisson-zèbre</term>
<term>Protéines et peptides de signalisation intracellulaire</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Apoptosis</term>
<term>DNA Repair</term>
<term>Endoplasmic Reticulum Stress</term>
<term>Hernia, Hiatal</term>
<term>Microcephaly</term>
<term>Nephrosis</term>
<term>Nephrotic Syndrome</term>
<term>RNA Processing, Post-Transcriptional</term>
<term>Telomere Homeostasis</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Apoptose</term>
<term>Complexes multiprotéiques</term>
<term>Hernie hiatale</term>
<term>Homéostasie des télomères</term>
<term>Maturation post-transcriptionnelle des ARN</term>
<term>Metalloendopeptidases</term>
<term>Microcéphalie</term>
<term>Néphrose</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Protéines de poisson-zèbre</term>
<term>Protéines de transport</term>
<term>Protéines et peptides de signalisation intracellulaire</term>
<term>Réparation de l'ADN</term>
<term>Stress du réticulum endoplasmique</term>
<term>Syndrome néphrotique</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Podocytes</term>
<term>RNA, Transfer</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>ARN de transfert</term>
<term>Podocytes</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Nephrotic Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Cytoskeleton</term>
<term>Podocytes</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>CRISPR-Cas Systems</term>
<term>Cell Movement</term>
<term>Gene Knockout Techniques</term>
<term>Humans</term>
<term>Mice</term>
<term>Models, Molecular</term>
<term>Mutation</term>
<term>Protein Conformation</term>
<term>Zebrafish</term>
</keywords>
<keywords scheme="MESH" qualifier="ultrastructure" xml:lang="fr"><term>Animaux</term>
<term>Conformation des protéines</term>
<term>Cytosquelette</term>
<term>Danio zébré</term>
<term>Humains</term>
<term>Modèles moléculaires</term>
<term>Mouvement cellulaire</term>
<term>Mutation</term>
<term>Podocytes</term>
<term>Souris</term>
<term>Systèmes CRISPR-Cas</term>
<term>Techniques de knock-out de gènes</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Arabie saoudite</li>
<li>Australie</li>
<li>Belgique</li>
<li>Canada</li>
<li>France</li>
<li>Iran</li>
<li>Israël</li>
<li>Japon</li>
<li>Jordanie</li>
<li>Malaisie</li>
<li>Maroc</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>République populaire de Chine</li>
<li>Taïwan</li>
<li>Thaïlande</li>
<li>Turquie</li>
<li>Égypte</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>Connecticut</li>
<li>District de Moyenne-Franconie</li>
<li>Grand Londres</li>
<li>Groningue (province)</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Michigan</li>
<li>Oklahoma</li>
<li>Ontario</li>
<li>Québec</li>
<li>Saxe-Anhalt</li>
<li>Texas</li>
<li>Utah</li>
<li>Île-de-France</li>
</region>
<settlement><li>Erlangen</li>
<li>Gif-sur-Yvette</li>
<li>Groningue</li>
<li>Londres</li>
<li>Magdebourg</li>
<li>Montréal</li>
<li>Orsay</li>
<li>Paris</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université McGill</li>
<li>Université Paris-Sud</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Braun, Daniela A" sort="Braun, Daniela A" uniqKey="Braun D" first="Daniela A" last="Braun">Daniela A. Braun</name>
</region>
<name sortKey="Airik, Merlin" sort="Airik, Merlin" uniqKey="Airik M" first="Merlin" last="Airik">Merlin Airik</name>
<name sortKey="Ashraf, Shazia" sort="Ashraf, Shazia" uniqKey="Ashraf S" first="Shazia" last="Ashraf">Shazia Ashraf</name>
<name sortKey="Begtrup, Amber" sort="Begtrup, Amber" uniqKey="Begtrup A" first="Amber" last="Begtrup">Amber Begtrup</name>
<name sortKey="Cho, Megan T" sort="Cho, Megan T" uniqKey="Cho M" first="Megan T" last="Cho">Megan T. Cho</name>
<name sortKey="Choi, Won Il" sort="Choi, Won Il" uniqKey="Choi W" first="Won-Il" last="Choi">Won-Il Choi</name>
<name sortKey="Daga, Ankana" sort="Daga, Ankana" uniqKey="Daga A" first="Ankana" last="Daga">Ankana Daga</name>
<name sortKey="Dedon, Peter C" sort="Dedon, Peter C" uniqKey="Dedon P" first="Peter C" last="Dedon">Peter C. Dedon</name>
<name sortKey="Gaffney, Patrick M" sort="Gaffney, Patrick M" uniqKey="Gaffney P" first="Patrick M" last="Gaffney">Patrick M. Gaffney</name>
<name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name>
<name sortKey="Gipson, Patrick E" sort="Gipson, Patrick E" uniqKey="Gipson P" first="Patrick E" last="Gipson">Patrick E. Gipson</name>
<name sortKey="Hermle, Tobias" sort="Hermle, Tobias" uniqKey="Hermle T" first="Tobias" last="Hermle">Tobias Hermle</name>
<name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<name sortKey="Hoogstraten, Charlotte A" sort="Hoogstraten, Charlotte A" uniqKey="Hoogstraten C" first="Charlotte A" last="Hoogstraten">Charlotte A. Hoogstraten</name>
<name sortKey="Hu, Jennifer F" sort="Hu, Jennifer F" uniqKey="Hu J" first="Jennifer F" last="Hu">Jennifer F. Hu</name>
<name sortKey="Jobst Schwan, Tilman" sort="Jobst Schwan, Tilman" uniqKey="Jobst Schwan T" first="Tilman" last="Jobst-Schwan">Tilman Jobst-Schwan</name>
<name sortKey="Lawson, Jennifer A" sort="Lawson, Jennifer A" uniqKey="Lawson J" first="Jennifer A" last="Lawson">Jennifer A. Lawson</name>
<name sortKey="Lifton, Richard P" sort="Lifton, Richard P" uniqKey="Lifton R" first="Richard P" last="Lifton">Richard P. Lifton</name>
<name sortKey="Littlejohn, Rebecca Okashah" sort="Littlejohn, Rebecca Okashah" uniqKey="Littlejohn R" first="Rebecca Okashah" last="Littlejohn">Rebecca Okashah Littlejohn</name>
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<name sortKey="Pabst, Werner L" sort="Pabst, Werner L" uniqKey="Pabst W" first="Werner L" last="Pabst">Werner L. Pabst</name>
<name sortKey="Poduri, Annapurna" sort="Poduri, Annapurna" uniqKey="Poduri A" first="Annapurna" last="Poduri">Annapurna Poduri</name>
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<name sortKey="Roeder, Elizabeth R" sort="Roeder, Elizabeth R" uniqKey="Roeder E" first="Elizabeth R" last="Roeder">Elizabeth R. Roeder</name>
<name sortKey="Sadowski, Carolin E" sort="Sadowski, Carolin E" uniqKey="Sadowski C" first="Carolin E" last="Sadowski">Carolin E. Sadowski</name>
<name sortKey="Schapiro, David" sort="Schapiro, David" uniqKey="Schapiro D" first="David" last="Schapiro">David Schapiro</name>
<name sortKey="Schmidt, Johanna Magdalena" sort="Schmidt, Johanna Magdalena" uniqKey="Schmidt J" first="Johanna Magdalena" last="Schmidt">Johanna Magdalena Schmidt</name>
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<name sortKey="Tan, Weizhen" sort="Tan, Weizhen" uniqKey="Tan W" first="Weizhen" last="Tan">Weizhen Tan</name>
<name sortKey="Truglio, Gessica" sort="Truglio, Gessica" uniqKey="Truglio G" first="Gessica" last="Truglio">Gessica Truglio</name>
<name sortKey="Ullmann, Jeremy F P" sort="Ullmann, Jeremy F P" uniqKey="Ullmann J" first="Jeremy F P" last="Ullmann">Jeremy F P. Ullmann</name>
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<country name="France"><region name="Île-de-France"><name sortKey="Mollet, Geraldine" sort="Mollet, Geraldine" uniqKey="Mollet G" first="Geraldine" last="Mollet">Geraldine Mollet</name>
</region>
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   |texte=   Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
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Serveur d'exploration sur les relations entre la France et l'Australie

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

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	Serveur d'exploration sur les relations entre la France et l'Australie
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